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Yunis-Varon Syndrome.

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Yunis-Varon syndrome, a rare genetic disorder, presents with distinct facial and limb abnormalities. This report details a case in Pakistan, highlighting an unusual association with cleft lip and palate.

Keywords:
Cleidocranial dysplasia; Aplastic thumb and toesYunis-Varon syndrome

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Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • Yunis-Varon syndrome is a rare autosomal recessive disorder.
  • It is characterized by specific facial and limb anomalies.

Observation:

  • A neonate presented with typical Yunis-Varon syndrome features.
  • The infant also had a complete cleft lip and palate, an uncommon co-occurrence.
  • The family had a history of two previous infant deaths with similar symptoms.

Findings:

  • This case represents the first documented instance of Yunis-Varon syndrome in Pakistan.
  • The consanguineous marriage of the parents suggests a potential genetic inheritance pattern.

Implications:

  • This case expands the known clinical spectrum of Yunis-Varon syndrome.
  • It underscores the importance of genetic counseling in consanguineous families with a history of rare disorders.